DLX5 Gene Split-hand/foot malformation type 1 with sensorineural hearing loss NGS Genetic Test
Short Name: DLX5 SHFM1 NGS Test
Also known as: SHFM1 with hearing loss genetic test, DLX5 gene mutation test
DLX5 Gene Split-hand/foot malformation type 1 with sensorineural hearing loss NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the DLX5 gene that cause SHFM1 with sensorineural hearing loss. It aids in confirming a clinical diagnosis, assessing the risk of transmission to offspring, and providing information for early intervention and management of hearing and limb abnormalities.
- Test Code
- 5937
- CPT Code
- 81407
- ICD Code
- Q71.6
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss family history and implications.
Method: Venipuncture or finger prick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist. For FTA card, a simple finger prick is sufficient.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the DLX5 gene that cause SHFM1 with sensorineural hearing loss. It aids in confirming a clinical diagnosis, assessing the risk of transmission to offspring, and providing information for early intervention and management of hearing and limb abnormalities.
How to Prepare
- Ensure the sample is labeled correctly with patient details.
- For blood samples, use EDTA tube and store at room temperature if shipped within 24 hours.
- For FTA card, allow the blood spot to dry completely before packaging.
- Avoid hemolysis by gentle handling of the sample.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for DLX5 is crucial for accurate diagnosis and family planning. Early detection can guide management of hearing loss and limb anomalies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of DLX5-related SHFM1 with hearing loss. Genetic counseling recommended for family planning.
Likely pathogenic variant detected
Highly suggestive of the condition; further segregation analysis may be advised.
Variant of uncertain significance (VUS)
Insufficient evidence to determine pathogenicity; additional testing of family members may help.
No pathogenic variant detected
No mutation found in DLX5 gene; other genetic or non-genetic causes should be considered.
If you or your child have symptoms such as split or missing fingers/toes, hearing loss, or delayed speech, consult a clinical geneticist or pediatrician for evaluation and possible genetic testing.
Limitations
- ⚠This test detects mutations only in the DLX5 gene; other genes may also cause SHFM1.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess non-genetic causes of limb malformations or hearing loss.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS) requiring further testing
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Recent blood transfusion (within 2 weeks)
- ●Bone marrow transplantation
- ●Maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | DLX5 Gene Split-hand/foot malformation type 1 with sensorineural hearing loss NGS Genetic Test | Whole Exome Sequencing | Sanger Sequencing | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | DLX5 Gene Split-hand/foot malformation type 1 with sensorineural hearing loss NGS Genetic Test | WES analyzes all coding regions of genes, while this test focuses only on DLX5. WES is more comprehensive but costlier and may take longer. | Sanger is targeted for known mutations, whereas NGS can detect novel variants across the entire gene. NGS is more efficient for initial screening. | CMA detects large deletions/duplications but not point mutations. This NGS test is better for single-gene disorders. |
Frequently Asked Questions
What is the cost of the DLX5 gene NGS test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
Can this test detect all causes of split-hand/foot malformation?
Is home sample collection available?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Can this test be done for prenatal diagnosis?
Are there any risks associated with the test?
Is the test NABL accredited?
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